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Gene: Dis3l2 MGI:2442555

Gene Summary

Name:

DIS3 like 3'-5' exoribonuclease 2

Synonyms:

4930429A22Rik, 8030493P09Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
hemorrhage	Dis3l2^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal embryo size	Dis3l2^em1(IMPC)Bay	HOM	E18.5	0.00
increased body length	Dis3l2^em1(IMPC)Bay	HET	Early adult	3.74×10^-06
preweaning lethality, complete penetrance	Dis3l2^em1(IMPC)Bay	HOM	Early adult	0.00
abnormal tail morphology	Dis3l2^em1(IMPC)Bay	HOM	E18.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left eye

17 Images

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Eye Morphology

VIP of right fundus

17 Images

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Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of left fundus

17 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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Human diseases caused by Dis3l2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dis3l2 (3 diseases)
Human diseases predicted to be associated with Dis3l2 (723 diseases)

The table below shows human diseases associated to Dis3l2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Perlman Syndrome	Tall stature	ORPHA:2849
Perlman Syndrome	Nephroblastoma, Nephrogenic rest, Nephroblastomatosis, Renal hamartoma	OMIM:267000
Nephroblastoma	Hematuria, Nephroblastoma	ORPHA:654

The table below shows human diseases predicted to be associated to Dis3l2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Respiratory failure, Hypertonia, Myoclonus, Hydronephrosis	OMIM:618240
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia	OMIM:605909
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Urinary urgency, Lower limb spasticity, Bradykinesia	OMIM:618878
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Autosomal Dominant Spastic Paraplegia Type 3	Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Bradykinesia, Lower limb hyperto...	ORPHA:100984
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine...	OMIM:618418
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa...	OMIM:128230
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines...	OMIM:213600
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy	OMIM:618683
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Scoliosis	ORPHA:306669
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:613869
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia...	OMIM:617225
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Scoliosis, Death in adoles...	OMIM:300717
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s...	ORPHA:240103
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Scoliosis, Spasticity	ORPHA:521406
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia	ORPHA:210571
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis	OMIM:619887
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Spinocerebellar Ataxia 17	Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:607136
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:611722
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Spinocerebellar Ataxia 10	Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata...	OMIM:603516
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Limb fa...	ORPHA:90117
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Lumbar hyperlordosis, Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetr...	OMIM:600561
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Parkinson Disease 2, Autosomal Recessive Juvenile	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:600116
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Respiratory insufficiency, Hand trem...	ORPHA:289560
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Incoordination, Hypospadias, Ataxia, Involun...	ORPHA:209905
Pontocerebellar Hypoplasia, Type 1C	Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Deat...	OMIM:616081
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia	OMIM:609161
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia	ORPHA:228169
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Vertebral segmen...	OMIM:618845
Dystonia 16	Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr...	OMIM:612067
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder	ORPHA:2547
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo...	ORPHA:314632
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ...	OMIM:300423
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis	OMIM:619052
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Lacticaciduria	OMIM:619063
Leber Optic Atrophy And Dystonia	Bradykinesia, Athetosis, Scoliosis, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L...	OMIM:615528
Parkinson Disease 22, Autosomal Dominant	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:616710
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Urinary incontinence, Postural tremor, Rigidity, Babinski sign, Dysmetria, ...	OMIM:183090
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia	OMIM:618824
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Rigidity, Tremor, Bradykinesia, Parkinsonism with favorable response to dop...	ORPHA:240085
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait a...	OMIM:615157
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Vacterl Association With Hydrocephalus	Renal hypoplasia, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnormal vertebral ...	OMIM:276950
Cyanide-Induced Parkinsonism-Dystonia	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia	OMIM:618317
Dystonia 12	Tremor, Torticollis, Bradykinesia, Parkinsonism	OMIM:128235
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Scoliosis, Spa...	OMIM:617435
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias, Respiratory insufficiency	ORPHA:2487
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ...	ORPHA:466722
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Hemiparesis, Bradykinesia, Trunc...	OMIM:601338
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Adrenomyodystrophy	Abnormality of the urinary system, Megacystis	ORPHA:977
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia	ORPHA:71517
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Spastic tetraparesis, Lactic...	OMIM:605711
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Apnea, Parkinsonism, Ataxia, Kyphoscoliosis, Tremor, Babinski sign, Spastic parap...	OMIM:300055
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Tremor, Clumsiness, Eyelid myoclonus, Respirato...	ORPHA:2590
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Macdermot-Winter Syndrome	Death in infancy, Hydronephrosis	OMIM:247990
Corticobasal Syndrome	Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad...	ORPHA:454887
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Hypertonia, Myoclonus, Spasticity	OMIM:225753
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Functional abnormality of the bladder, Paraplegia	ORPHA:71211
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetos...	OMIM:618877
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis	OMIM:263000
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus	OMIM:619862
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp...	ORPHA:238455
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Machado-Joseph Disease	Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk...	OMIM:109150
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Ataxia, Tremor, Hydronephrosis	OMIM:222300
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Bradykinesia, Ataxia, Rigidity	OMIM:617836
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab...	OMIM:606324
Juvenile Huntington Disease	Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus	ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp...	OMIM:614922
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Beta-Propeller Protein-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Hyperekplexia 4	Respiratory failure, Hypertonia, Myoclonus, Kyphoscoliosis	OMIM:618011
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Familial Visceral Myopathy	Vesicoureteral reflux, Hydroureter, Megacystis	ORPHA:2604
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia	OMIM:617384
Perry Syndrome	Hypoventilation, Central hypoventilation, Parkinsonism, Tremor, Rigidity, Respiratory insufficien...	OMIM:168605
Spinocerebellar Ataxia Type 8	Ataxia, Urinary incontinence, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesi...	ORPHA:98760
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure, Lethargy	OMIM:619386
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Action tremor	OMIM:606438
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria	OMIM:304800
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Dysmetria, Ga...	OMIM:300623
Multiple System Atrophy	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, St...	ORPHA:102
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ...	OMIM:619351
Congenital Myopathy 19	Respiratory insufficiency due to muscle weakness, Renal atrophy, Respiratory insufficiency, Scoli...	OMIM:618578
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity	OMIM:221820
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure, Ataxia	OMIM:618637
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Hemivertebrae, Horses...	ORPHA:93929
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in...	OMIM:602088
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ...	ORPHA:98755
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity	OMIM:610127
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia	OMIM:261640
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Ataxia, Babinski sign, Hypercalciuria, Renal cyst, Nephrocalcinos...	OMIM:615398
Codas Syndrome	Coronal cleft vertebrae, Hydroureter, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:1458
Congenital Muscular Dystrophy With Intellectual Disability	Poor gross motor coordination, Respiratory insufficiency, Respiratory failure, Scoliosis, Micropenis	ORPHA:370968
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Rigidity, Respiratory failure, Myoclonus, Aspiration pneumonia	OMIM:619057
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure	OMIM:313420
Spinocerebellar Ataxia Type 13	Torticollis, Urinary incontinence, Limb ataxia, Clumsiness, Urinary urgency, Titubation, Gait ata...	ORPHA:98768
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, St...	ORPHA:98933
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Hepatic Veno-Occlusive Disease	Renal insufficiency, Respiratory failure	ORPHA:890
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scoliosis, Neona...	OMIM:611890
Adult-Onset Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Poor fine motor coordination, Reduced vital cap...	ORPHA:171442
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis	OMIM:615643
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia...	ORPHA:53351
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Respiratory failure...	ORPHA:79327
Childhood-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Clumsiness, Poor fine m...	ORPHA:171439
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign...	ORPHA:97349
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech, Nephrolithiasis	OMIM:619827
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi...	ORPHA:225147
Multiple System Atrophy, Cerebellar Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb ataxia, Ga...	ORPHA:227510
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary incontinence, Urinary urgency, Stridor, Respiratory failure, Scoliosis, Intercostal muscl...	OMIM:606071
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk...	ORPHA:13
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Spasticity, Hydronephrosis, Choreoathetosis	ORPHA:85285
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp...	OMIM:618060
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hyperlordosis, Renal hypoplasia/aplasia, Kyphosis, Scoliosis, Hydroneph...	ORPHA:568
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia	OMIM:168600
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Bifid sacrum, Vertebra...	ORPHA:1756
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalci...	ORPHA:445038
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron...	OMIM:613390
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:171695
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Spasticity	OMIM:616277
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Multicystic kidney dysplasia, Hydroureter, Recurrent ur...	ORPHA:79404
Primary Progressive Freezing Gait	Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls	ORPHA:75567
Cln3 Disease	Bradykinesia, Extrapyramidal muscular rigidity, Urinary bladder sphincter dysfunction, Ataxia	ORPHA:228346
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti...	OMIM:619725
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia	OMIM:619911
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Lacticaciduria, Respiratory insufficiency, Methy...	OMIM:245400
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory...	OMIM:614299
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Visceral Myopathy 2	Megacystis	OMIM:619350
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Ureteral agenesis, Abnormality of the urinary system, Congenital megaure...	ORPHA:2437
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia	ORPHA:70594
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Parkinsonism, Respiratory insufficiency due to muscle weakness, Rigidity, Babinski sign, Limb ata...	OMIM:258450
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Hypermanganesemia With Dystonia 2	Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk...	OMIM:617013
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med...	ORPHA:254886
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Apnea, Hydronephrosis, Scoliosis	OMIM:619797
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue fasciculations, Fasciculations	OMIM:613435
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora...	OMIM:311510
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Myoclonus	OMIM:168601
Noonan Syndrome 9	Hydroureter	OMIM:616559
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Kyphosis, Nephrolithiasis, Respiratory...	ORPHA:352447
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus...	OMIM:617854
Huntington Disease	Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi...	ORPHA:399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Lower limb spasticity, Babinski sign, Ankle clonus, Respiratory failure, Fasciculations, Tetrapar...	OMIM:613954
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Respiratory...	OMIM:619847
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Hypertonia, Myoclonus...	OMIM:616505
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra...	OMIM:146500
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki...	ORPHA:98808
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap...	OMIM:613280
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Hydronephrosis, Limb h...	OMIM:620327
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Kyphosis, Respiratory failure, Scoliosis, Frequent falls	ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S...	OMIM:606612
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Hydronephrosis	OMIM:607598
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Tachypnea, Diaphragmatic paralysis, Respiratory failure, Inspiratory strido...	OMIM:604320
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Renal fibrosis, Oculomo...	OMIM:618161
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Respirator...	ORPHA:1046
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insufficiency due to mu...	OMIM:220110
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Hemivertebrae, Renal h...	OMIM:146510
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Renal cyst	OMIM:614862
Carpenter Syndrome 1	Hydroureter, Spina bifida occulta, Hydronephrosis, Scoliosis	OMIM:201000
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Sac...	OMIM:258040
Frontometaphyseal Dysplasia 1	Hydroureter, Stridor, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Hydro...	OMIM:305620
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Respiratory failur...	ORPHA:363400
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency	OMIM:615330
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Spina bifida occulta, Vesicoureteral reflux, Crossed fuse...	OMIM:300707
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Urinary bladd...	ORPHA:93256
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech...	ORPHA:240071
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Thoracic kyphoscoliosis, Restrictive ventilatory defect, Respi...	ORPHA:98913
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Death in childhood, ...	OMIM:615838
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hypospadias, Abnormality of the kidney, Respiratory failure, 3-Methylglutaconic...	ORPHA:1194
Pontocerebellar Hypoplasia Type 1	Ataxia, Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Spasticity	ORPHA:2254
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,...	OMIM:608836
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Bradykinesia, Parkinsonism	ORPHA:412066
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Parkinsonism w...	ORPHA:411602
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity	ORPHA:168486
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res...	OMIM:613845
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Tremor, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Athetosis, C...	ORPHA:280633
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Vertebral segmentation defect, Micropenis, Hydron...	ORPHA:1926
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Scoliosis, Apraxia	OMIM:620141
Snakebite Envenomation	Epistaxis, Paralysis, Respiratory failure, Pseudobulbar paralysis, Respiratory paralysis, Acute k...	ORPHA:449285
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidne...	ORPHA:330021
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Scoliosis, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Leigh Syndrome	Ataxia, Respiratory insufficiency, Respiratory failure, Spasticity, Abnormal pattern of respiration	OMIM:256000
Manganese Poisoning	Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor...	ORPHA:306682
Mitochondrial Complex I Deficiency, Nuclear Type 10	Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure	OMIM:618233
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Spasticity, Opisthotonus	OMIM:610678
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Respir...	OMIM:616482
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Kyphosis, Renal ...	ORPHA:90324
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Chorea, Ataxia, Spasticity	ORPHA:70472
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Ataxia, Tremor, Rigidity, Respiratory insufficiency, Gait ataxia, Cogwheel rigidi...	ORPHA:254892
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Metatropic Dysplasia	Kyphoscoliosis, Kyphosis, Respiratory insufficiency, Respiratory failure, Platyspondyly, Scoliosi...	OMIM:156530
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Ataxia, Urinary incontine...	ORPHA:496641
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Neonatal death, Abnormal vertebral morphology, Hydronephrosis, Enlarged kidney	OMIM:314390
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of the upper u...	ORPHA:2636
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Raine Syndrome	Neonatal death, Death in infancy, Hydroureter, Hydronephrosis	OMIM:259775
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal renal morphology, Abnormal respiratory sys...	ORPHA:449280
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity	OMIM:618186
Recombinant Chromosome 8 Syndrome	Hypertonia, Hydronephrosis, Scoliosis	OMIM:179613
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ...	ORPHA:2759
Joubert Syndrome 37	Oculomotor apraxia, Micropenis, Lumbar hyperlordosis, Hydronephrosis	OMIM:619185
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatati...	OMIM:265380
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Kyphosis, Hypertonia, Bilateral renal agenesis, Scoliosis	OMIM:619194
Tibial Muscular Dystrophy	Respiratory failure, Clumsiness	ORPHA:609
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Kyphosis, Vertebral segmentation defect, Sco...	ORPHA:96169
Rett Syndrome	Bradykinesia, Scoliosis, Abnormal pattern of respiration, Limb apraxia	ORPHA:778
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Restrictive ...	ORPHA:26791
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi...	OMIM:135100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, S...	OMIM:618291
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas...	OMIM:610217
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Frequent falls, Nocturnal hypoventilation	OMIM:603689
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Babinski sign, Spasticity, Myoclonus, Scoliosis, Micropenis, Hydronephrosis	ORPHA:364028
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Abno...	OMIM:234200
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven...	OMIM:310200
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Melnick-Needles Syndrome	Respiratory insufficiency, Scoliosis, Vesicoureteral reflux, Hydronephrosis, Anisospondyly	ORPHA:2484
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal s...	ORPHA:306674
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Trisomy 13	Kyphosis, Abnormality of the ureter, Multiple renal cysts, Scoliosis, Displacement of the urethra...	ORPHA:3378
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu...	OMIM:617666
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Tremor,...	OMIM:615512
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis, Death in chi...	OMIM:617186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P...	OMIM:157640
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Appendicular spasticity, Unilateral renal agenesis, Renal hypoplasia, Scoliosis, Hydronephrosis	OMIM:618494
Amyotrophic Lateral Sclerosis	Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Spasticity	ORPHA:803
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Tremor, Choreo...	OMIM:614080
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Clonus, Tremor, Hypopnea, 3-Methylglutaric aciduria, 3-Methylglutaconic ...	OMIM:617248
9Q21.13 Microdeletion Syndrome	Vertebral segmentation defect, Hydronephrosis, Scoliosis	ORPHA:531151
Tetrasomy 15Q26	Kyphoscoliosis, Hydronephrosis, Horseshoe kidney	OMIM:614846
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypertonia, Polycystic kidney dysplasia, ...	ORPHA:261290
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis	OMIM:620249
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis, Scoliosis	ORPHA:1727
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Fused cervical vertebrae	ORPHA:2522
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,...	OMIM:129900
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Myoglobinuria, Respiratory failure, Respiratory insufficiency	OMIM:609015
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Abnormal respiratory system physiology, Respiratory failure, Scoliosis, Micropenis	ORPHA:98905
Leigh Syndrome	Chorea, Choreoathetosis, Complex organic aciduria, Ataxia, Renal tubular dysfunction, Nephrotic s...	ORPHA:506
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory f...	OMIM:607625
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Stillbirth, Bilateral renal ag...	OMIM:617667
Trisomy 20P	Incoordination, Hypospadias, Abnormality of the kidney, Kyphosis, Abnormality of the ureter, Abno...	ORPHA:261318
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Progressive Supranuclear Palsy	Tremor, Rigidity, Blepharospasm, Bradykinesia	ORPHA:683
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine...	ORPHA:542323
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Opisthotonus, Micropenis, Hydronephrosis	OMIM:269150
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Frequent falls, Ataxia	OMIM:620166
Zaki Syndrome	Renal agenesis, Hydronephrosis, Hypertonia, Scoliosis, Spastic gait	OMIM:619648
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Recurrent pneumonia, Scoliosis, Pulmonary arterial hypertension, Spasticit...	OMIM:616449
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter	OMIM:610759
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:615530
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Dysuria, Babinski sign, Slurred speech, Spastic gait, Spastic dysarthria, Ankle c...	ORPHA:101000
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Scoliosis, Hydronephrosis, Spastic tetraparesis	OMIM:619179
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Spastic diplegia	OMIM:300048
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hemivertebrae, Hydronephrosis, Scoliosis	OMIM:104350
Distal Triplication 15Q	Abnormality of the kidney, Kyphosis, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic...	ORPHA:314588
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis, Hemivertebrae	OMIM:220210
Netherton Syndrome	Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis	ORPHA:634
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis, Scoliosis	OMIM:610733
Vici Syndrome	Renal tubular acidosis, Ureteral atresia, Death in infancy	ORPHA:1493
Micro Syndrome	Hypoplasia of penis, Kyphosis, Abnormal localization of kidney, Scoliosis, Spasticity, Hydronephr...	ORPHA:2510
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hypertonia, Hydronephrosis	ORPHA:2083
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Chand Syndrome	Hydroureter, Ataxia	ORPHA:1401
Boutonneuse Fever	Renal insufficiency, Respiratory failure	ORPHA:83313
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Stankiewicz-Isidor Syndrome	Ureteral duplication, Micropenis, Hypospadias	OMIM:617516
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Micropenis, Platyspondyly, Pleural effusion, Hydronephrosis	OMIM:616897
3C Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Kyphosis, Hemivertebrae, Scoliosis, Hydroneph...	ORPHA:7
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias, Respiratory failure	ORPHA:171430
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu...	ORPHA:84
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Respiratory insufficiency, Scoliosis, Tracheomalaci...	ORPHA:140
Young-Onset Parkinson Disease	Tremor, Spasticity, Rigidity, Bradykinesia	ORPHA:2828
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Kyphosis, Abnormality of the ureter, Respiratory insufficiency, Abnormal form of the...	ORPHA:2311
Intellectual Disability, Buenos-Aires Type	Cuboid-shaped thoracolumbar vertebral bodies, Spastic gait, Hydronephrosis	ORPHA:3079
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Kury-Isidor Syndrome	Hydronephrosis, Scoliosis	OMIM:619762
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis	OMIM:620296
Webb-Dattani Syndrome	Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Spasticity, Hydronephrosis	OMIM:615926
Riddle Syndrome	Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis nocturna, Clumsiness, Restric...	ORPHA:420741
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, T...	ORPHA:60025
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Ataxia, Urolithiasis, Hyperuricosuria, Death in childhood, Uric...	OMIM:300661
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Hypertonia, Scoliosis, Vesicoureteral reflux,...	OMIM:618460
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Dyspnea, Renal cyst, Scoli...	ORPHA:261494
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Respiratory insufficiency, Hydroneph...	ORPHA:912
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia	OMIM:617301
Joubert Syndrome 21	Apnea, Ataxia, Dyspnea, Renal cyst, Respiratory failure, Oculomotor apraxia, Hyperechogenic kidne...	OMIM:615636
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Hemivertebrae, Urethral atresia, Supernumerary vertebrae, Scol...	OMIM:271520
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Infantile Krabbe Disease	Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Respir...	ORPHA:206436
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Thoracic scoliosis, Hypospadias, Kyphoscoliosis, Hemolytic-uremic syndrome, ...	OMIM:611209
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis, But...	OMIM:301056
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Death in infancy, Apnea, Hypospadias, Ataxia, Babinski sign, Lact...	OMIM:252010
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Neonatal asphyxia, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Respiratory failure, Ataxia, Titubation	ORPHA:280210
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia	ORPHA:488613
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea...	OMIM:620278
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Renal hypoplasia, Gait ataxia, Scoliosis, Spi...	OMIM:135900
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, 3-Methylglutaconic aciduria, Respiratory insufficiency, Spasticity	OMIM:618329
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Respiratory insufficiency, Horseshoe kidney, Neonatal death,...	OMIM:601186
Igg4-Related Aortitis	Asthma, Hydronephrosis	ORPHA:449400
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Kyphoscoliosis, Pneumothorax, Functional abnormality of the bladder, Nephrolit...	ORPHA:2953
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C...	ORPHA:244
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto...	ORPHA:309854
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, ...	OMIM:607323
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph...	OMIM:180860
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Kyphoscoliosis, Kyphosis, Hemivertebrae, Spasticity, Scoliosis, Micr...	OMIM:301040
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Kyphoscoliosis, Hydronephrosis, Spasticity	OMIM:612513
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Kyphosis, Platysp...	ORPHA:2273
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication, Hand tremor	ORPHA:457212
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi...	OMIM:208540
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Spastic tetraparesis	OMIM:614924
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Renal duplication	OMIM:270420
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
8P Inverted Duplication/Deletion Syndrome	Spastic tetraplegia, Hypertonia, Abnormality of the urinary system, Scoliosis, Micropenis, Hydron...	ORPHA:96092
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Baller-Gerold Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Scoliosis, Vesicoureteral reflux, Hyd...	ORPHA:1225
Urban-Rogers-Meyer Syndrome	Kyphosis, Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Acro-Renal-Ocular Syndrome	Renal malrotation, Vertebral fusion, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder divertic...	ORPHA:959
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Platyspondyly, Scoliosis, Moderate albuminuria, Hydronephrosis	OMIM:619269
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Neurogenic bladder, Neonatal asphyxia, Respiratory insufficiency, Hydronephrosis	OMIM:608779
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, Dyspnea, Chr...	ORPHA:340
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Hydronephrosis	ORPHA:457193
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Respiratory insufficiency, Respiratory failure, Lethargy, Frequent falls	ORPHA:746
Tarp Syndrome	Neonatal death, Athetosis, Hydronephrosis, Horseshoe kidney	OMIM:311900
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Kyphoscoliosis, Hydronephrosis, Hypoplastic cervical vertebrae	ORPHA:35173
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Recurrent pneumonia, Male urethral meatus stenosis, Scoliosis, Pulmonary a...	ORPHA:464738
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Emphysema	OMIM:219100
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:2315
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Myoclonus, Scoliosis, Oculomotor apraxia, Hydronephrosis	ORPHA:247262
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Punctate vertebral calcifications, Hemivertebrae, Scoliosis, Hydronephrosis	OMIM:302960
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Hyperlordo...	ORPHA:573278
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology, Hydronephrosis	ORPHA:210122
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Scoliosis, Pulmonary arteri...	ORPHA:314585
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Horseshoe kidney, Scoliosis, Vesicoureteral reflux, Pleural effusion, Spina bifid...	OMIM:235510
Erdheim-Chester Disease	Renal insufficiency, Ataxia, Dysuria, Dyspnea, Cough, Pleural effusion, Hydronephrosis	ORPHA:35687
Takenouchi-Kosaki Syndrome	Ataxia, Hypospadias, Unilateral renal agenesis, Scoliosis, Hydronephrosis	OMIM:616737
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Recurrent pneumonia, Respiratory insufficiency, Bladder diverticulum, Platyspondy...	OMIM:225400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Hypospadias, Albuminuria, Aminoaciduria, Death in childhood, Frequ...	OMIM:214100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi...	ORPHA:258
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure, Death ...	OMIM:610505
Mosaic Trisomy 8	Vesicoureteral reflux, Vertebral segmentation defect, Hydronephrosis, Scoliosis	ORPHA:96061
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Respiratory insufficiency	OMIM:618975
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Scoliosis	ORPHA:1358
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Hydronephrosis	ORPHA:254528
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Multicystic kidney dysplasia, Kyphosis, Scoliosis, Hydronephrosis	ORPHA:261349
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Respiratory failure, Spastic tetraplegia	ORPHA:3240
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:154230
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Epistaxis, Chroni...	ORPHA:900
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum, Kyphoscoliosis	ORPHA:2976
Mosaic Trisomy 9	Hypoplasia of penis, Hemivertebrae, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Scoli...	ORPHA:99776
Poliomyelitis	Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Respiratory failure, ...	ORPHA:2912
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Hydronephrosis, Abnormal form of the vertebral bodies	ORPHA:2839
Peroxisome Biogenesis Disorder 4B	Ataxia, Ureterocele	OMIM:614863
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Death in infancy, Lower limb spasticity, Bilateral fetal pyelectasi...	OMIM:300868
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Scoliosis, Vesicoureteral reflux, Pulmonary arterial ...	OMIM:618454
Occipital Horn Syndrome	Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hydronephrosis	OMIM:304150
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis	OMIM:609454
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dyspnea, Babi...	ORPHA:79138
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vertebral segmentation defect, Scoliosis, Vesicoureteral reflux, Pleural effusion, Abnormal bladd...	ORPHA:453499
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Spasticity, Hydronephrosis	ORPHA:541423
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Renal dysplasia, Hydronephrosis, Scoliosis	OMIM:300968
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Poland Syndrome	Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, Ren...	ORPHA:2911
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Tarp Syndrome	Apnea, Horseshoe kidney, Scoliosis, Athetoid cerebral palsy, Hydronephrosis	ORPHA:2886
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Kyphosis, Scoliosis, Vesicoureteral reflux,...	OMIM:610443
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst...	ORPHA:116
Melnick-Needles Syndrome	Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Stillbirth, Pulmonar...	OMIM:309350
Alg9-Cdg	Lower limb spasticity, Torticollis, Hypoplasia of the bladder, Ureteral hypoplasia, Asthma, Abnor...	ORPHA:79328
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Ataxia, Tremor, Pyelonephritis, Hemiparesis, Respir...	ORPHA:533
Osteopetrosis, Autosomal Recessive 5	Clonus, Spastic tetraplegia, Respiratory failure, Hypertonia, Stillbirth, Limb hypertonia	OMIM:259720
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Aredyld Syndrome	Abnormality of the ureter, Scoliosis	ORPHA:1133
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Hydronephrosis	ORPHA:1780
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Recurrent pneumonia, Multiple bladder diverticula, Death in childhood, Tracheom...	OMIM:613177
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Spasticity, Hydronephrosis	OMIM:617093
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,...	ORPHA:90349
Genitopatellar Syndrome	Multicystic kidney dysplasia, Apnea, Hydronephrosis	ORPHA:85201
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias...	ORPHA:2473
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Scoliosis, Vesicour...	OMIM:192350
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Involuntary movements, Hydronephrosis	OMIM:617798
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Cerebral palsy, Asthma, Stridor, Myoclonus, Hemiplegia, Ureteropelvic junctio...	OMIM:616973
Malignant Atrophic Papulosis	Pleural effusion, Abnormality of the lower urinary tract, Respiratory failure	ORPHA:679
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphoscoliosis, Hyp...	ORPHA:2020
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Hypoplasia of penis, Recurrent urinary tract infections, Abnormality of the kid...	ORPHA:847
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Micropenis, Hydronephrosis	OMIM:235255
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Spasticity, Hydronephrosis	OMIM:617913
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis	OMIM:601104
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Scoliosis, Limb hypertonia	ORPHA:444072
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne...	ORPHA:464311
Stromme Syndrome	Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Stillbirth, Scoliosis, Hydronephrosis, Vertebral hypoplasia	OMIM:308050
Otopalatodigital Syndrome Type 2	Hypospadias, Ureteral obstruction, Scoliosis, Abnormal vertebral segmentation and fusion, Hydrone...	ORPHA:90652
Early Infantile Epileptic Encephalopathy	Tremor, Spasticity, Choreoathetosis, Myoclonus, Ureterocele, Episodic ataxia, Micropenis, Renal d...	ORPHA:1934
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Hydronephrosis, Scoliosis	ORPHA:250989
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Stillbirth, Chylothorax, Hydroneph...	OMIM:229850
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Scoliosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Congenital Disorder Of Glycosylation, Type It	Dyspnea, Hydronephrosis, Pulmonary arterial hypertension	OMIM:614921
Alagille Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Nephr...	ORPHA:52
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora...	ORPHA:731
Opitz Gbbb Syndrome	Hypospadias, Tracheomalacia, Stridor, Vertebral segmentation defect, Abnormality of the urinary s...	ORPHA:2745
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Death in infancy, Renal malrotation, Dilatation of the renal pelvis, Horses...	OMIM:274000
Campomelic Dysplasia	Respiratory distress, Poorly ossified cervical vertebrae, Neonatal respiratory distress, Thoracic...	OMIM:114290
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne...	ORPHA:464306
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Hemivertebrae, Dysmetria, Enuresis, Tracheomalacia, Hydro...	ORPHA:96121
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Gabriele-De Vries Syndrome	Tremor, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta...	ORPHA:805
Schinzel-Giedion Syndrome	Respiratory distress, Hypospadias, Nephroblastoma, Kyphoscoliosis, Recurrent pneumonia, Abnormali...	ORPHA:798
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Respirato...	ORPHA:646
Cardiofaciocutaneous Syndrome 1	Oculomotor apraxia, Hypertonia, Hydronephrosis, Scoliosis	OMIM:115150
Dubowitz Syndrome	Hypospadias, Asthma, Respiratory insufficiency, Scoliosis, Spina bifida occulta, Hydronephrosis	ORPHA:235
Au-Kline Syndrome	Thoracolumbar scoliosis, Chronic kidney disease, Dilatation of the renal pelvis, Vertebral segmen...	OMIM:616580
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal form of the vertebral bodies, Abnor...	ORPHA:819
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney	OMIM:115470
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis	ORPHA:3342
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Lumbar hyperlordosis, Kyphoscoliosis, Renal hypoplasia/aplasia, Renal h...	OMIM:309800
Williams Syndrome	Hypoplasia of penis, Tremor, Dysmetria, Abnormal tubulointerstitial morphology, Nephrocalcinosis,...	ORPHA:904
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Thoracolumbar scoliosis, Hemivertebrae, Nephrolithiasis, Nephrocalcinosis, Scol...	OMIM:268310
Abetalipoproteinemia	Ataxia, Kyphoscoliosis, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Upper motor n...	ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Death in child...	OMIM:618278
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Scoliosis, Hydronephrosis	ORPHA:2092
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Ataxia, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduc...	OMIM:266920
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Choreoacanthocytosis	Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord...	ORPHA:2388
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Urachus fistula, Respiratory insufficiency, Pulmonary arteria...	OMIM:612541
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Hypospadias, Epispadias, Dyspnea, Respiratory failure	ORPHA:2554
Frontometaphyseal Dysplasia	Ureteral obstruction, Urethral stenosis, Fused cervical vertebrae, Scoliosis, Spina bifida occult...	ORPHA:1826
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micropenis, Abnormal renal morphology, Hydronephrosis	ORPHA:1655
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Kyphosis, Vertebral segmenta...	ORPHA:1507
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Renal agenes...	OMIM:619522
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Kyphosi...	ORPHA:818
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Kyphoscoliosis	OMIM:614557
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Recurrent urinary tract infections, Hypospadias, Tracheomalacia, Hyperlordosis, K...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Recurrent urinary tract infections, Hypospadias, Tracheomalacia, Hyperlordosis, K...	ORPHA:363958
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Tachypnea, Respiratory insufficiency, Respiratory failure, Sc...	OMIM:613658
Bloom Syndrome	Recurrent urinary tract infections, Pneumonia, Chronic pulmonary obstruction, Respiratory failure...	ORPHA:125
Knobloch Syndrome 1	Duplicated collecting system, Ataxia, Spina bifida occulta, Bifid ureter, Hydronephrosis, Renal d...	OMIM:267750
Menkes Disease	Bladder diverticulum, Chorea, Hypertonia, Spasticity	ORPHA:565
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Scoliosis, Emphy...	ORPHA:90348
Kyphoscoliotic Ehlers-Danlos Syndrome	Bladder diverticulum, Kyphoscoliosis, Congenital kyphoscoliosis, Scoliosis	ORPHA:536545
Cardiofaciocutaneous Syndrome	Hydronephrosis, Scoliosis	ORPHA:1340
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Exaggerated startle response, Apnea, Involuntary movements, Breathing dysregulat...	ORPHA:438213
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Micropenis, Hypospadias, Hydronephrosis, Respiratory insufficiency	ORPHA:163979
Williams-Beuren Syndrome	Renal insufficiency, Incoordination, Recurrent urinary tract infections, Kyphoscoliosis, Urethral...	OMIM:194050
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, H...	ORPHA:96149
Cousin Syndrome	Hydronephrosis, Anterior rounding of vertebral bodies	OMIM:260660
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Hemivertebrae, Scoliosis,...	ORPHA:97360
Acrorenal-Mandibular Syndrome	Renal agenesis, Kyphoscoliosis, Abnormality of the ureter, Hemivertebrae, Aplasia of the bladder,...	OMIM:200980
Schwartz-Jampel Syndrome	Death in infancy, Abnormally ossified vertebrae, Apnea, Hyperlordosis, Kyphosis, Abnormality of t...	ORPHA:800
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Osteogenesis Imperfecta, Type Vii	Death in infancy, Vertebral compression fracture, Hydronephrosis, Scoliosis	OMIM:610682
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vertebral segmentation defect, Scoliosis, Nocturnal hypoventilation, Vesicoureteral reflux, Hydro...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vertebral segmentation defect, Scoliosis, Nocturnal hypoventilation, Vesicoureteral reflux, Hydro...	ORPHA:352665
Trisomy 18	Hypertonia, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Abnormal form of the vertebral bodies, Scoliosis,...	ORPHA:2308
Occipital Horn Syndrome	Recurrent urinary tract infections, Kyphosis, Bladder diverticulum, Platyspondyly, Scoliosis	ORPHA:198
Otopalatodigital Syndrome, Type Ii	Hypospadias, Kyphoscoliosis, Respiratory insufficiency, Respiratory failure, Stillbirth, Platyspo...	OMIM:304120
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary arterial hype...	ORPHA:2785
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Kyphoscoliosis, Stillbirth, Neonatal death	OMIM:275210
Floating-Harbor Syndrome	Speech apraxia, Hypospadias, Renal agenesis, Kyphoscoliosis, Dilatation of the renal pelvis, Stag...	ORPHA:2044
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hypospadias, ...	OMIM:270400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Scoliosis, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Myhre Syndrome	Vertebral fusion, Ataxia, Respiratory insufficiency, Enlarged vertebral pedicles, Respiratory fai...	OMIM:139210
Nijmegen Breakage Syndrome	Pollakisuria, Respiratory failure, Recurrent pneumonia	ORPHA:647
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Hydronephrosis	OMIM:251260
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnorma...	ORPHA:363700
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Tremor, Hydronephrosis	ORPHA:2750
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Pneumothorax, Ovoid thoracolumbar vertebrae, Ren...	ORPHA:3404
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret...	ORPHA:500095
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Apert Syndrome	Hydronephrosis, Cervical C5/C6 vertebrae fusion	OMIM:101200
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Knobloch Syndrome	Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Unilateral renal agenesis, Bilateral renal dysplasia, Kyphoscoliosis, Hemiv...	ORPHA:500150
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter, Hyperlordosis	ORPHA:3253
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Dyspnea, Respiratory fa...	ORPHA:2556
Charge Syndrome	Hemivertebrae, Respiratory insufficiency, Horseshoe kidney, Scoliosis, Vesicoureteral reflux, Mic...	ORPHA:138
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis, Gait ataxia	OMIM:280000
Craniofacioskeletal Syndrome	Hypospadias, Hydronephrosis	OMIM:300712
3Mc Syndrome 1	Spina bifida occulta, Hydronephrosis	OMIM:257920
Trisomy 8P	Nephrocalcinosis, Micropenis, Fetal pyelectasis, Hydronephrosis	ORPHA:264450
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Asthma, Chronic pulmonary obstru...	OMIM:188400
Doors Syndrome	Respiratory distress, Increased urine alpha-ketoglutarate concentration, Hemivertebrae, Nephrocal...	ORPHA:79500
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Recurrent urinary tract infections, Lower li...	OMIM:616268
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Hydronephrosis	OMIM:600383
Congenital Tracheal Stenosis	Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Wheezing, Dyspnea, Abnormalit...	ORPHA:141127
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Ataxia, Irregular sclerotic endplates, Action tr...	ORPHA:3455
Focal Dermal Hypoplasia	Ureteral duplication, Spina bifida occulta, Horseshoe kidney, Scoliosis, Bifid ureter, Hydronephr...	OMIM:305600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Cleft vertebral arch, Fused cervical vertebrae, Micropenis, Hydronephrosis	ORPHA:83617
Costello Syndrome	Renal insufficiency, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia	OMIM:218040
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Hemiplegia/hemiparesis, Kyphosis, Re...	ORPHA:1606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Spasticity	OMIM:615287
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Kyphoscoliosis, Hemivertebrae, Restrictive ventilatory defect, Respiratory failure, ...	ORPHA:96334
Okamoto Syndrome	Urinary incontinence, Unilateral renal hypoplasia, Scoliosis, Ureteropelvic junction obstruction,...	ORPHA:2729
Kabuki Syndrome 1	Crossed fused renal ectopia, Abnormal vertebral morphology, Micropenis, Scoliosis, Ureteropelvic ...	OMIM:147920
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie...	ORPHA:93271
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Pneumothorax, Hydronephrosis, Scoliosis	OMIM:601776
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Spina ...	ORPHA:709
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Ureterocele	OMIM:616734
Rubinstein-Taybi Syndrome 1	Respiratory distress, Incoordination, Hypospadias, Poor coordination, Scoliosis, Spina bifida occ...	OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Asthma, Nephrolithiasis, Abnormality ...	ORPHA:353281
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis	ORPHA:141099
Floating-Harbor Syndrome	Hypospadias, Kyphoscoliosis, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethr...	OMIM:136140
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Dextrocardia	Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Gabriele-De Vries Syndrome	Tremor, Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Hypospadias, Renal cyst, Duplication of renal pelvis, Vertebral se...	OMIM:312870
Restrictive Dermopathy	Ureteral duplication, Thoracic kyphoscoliosis, Hypospadias	ORPHA:1662
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Pulm...	ORPHA:3310
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Hemivertebrae, Renal hypoplasia, Scoliosis, Hydronephrosis	OMIM:261540
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication	ORPHA:2255
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Pneumonia, Abnormality of the kidney, Asthma, Ne...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Pneumonia, Abnormality of the kidney, Asthma, Ne...	ORPHA:353277
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Scoliosis, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Pneumonia, Poor fine motor coordination, Aminoac...	OMIM:619991
Classical Ehlers-Danlos Syndrome	Bladder diverticulum, Scoliosis	ORPHA:287
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Asthma, Dilatation of the renal pelvis, Stage 5 chronic kidney d...	OMIM:619534
Hydrolethalus Syndrome 1	Stillbirth, Hypospadias, Hydronephrosis	OMIM:236680
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Glycosuria	OMIM:600001
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Thoracolumbar scoliosis, Hydronephrosis, Scoliosis, Renal dysplasia	ORPHA:480880
Viss Syndrome	Dyspnea, Asthma, Pneumothorax, Kyphosis, Scoliosis, Pulmonary arterial hypertension, Emphysema, H...	OMIM:619472
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Asthma, Recurrent pneumonia, Hydronephrosis	OMIM:620330
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Scoliosis	OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Spasticity, Poor fine motor coor...	ORPHA:261537
Charge Syndrome	Renal agenesis, Hemivertebrae, Renal hypoplasia, Horseshoe kidney, Scoliosis, Micropenis, Hydrone...	OMIM:214800
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Ataxia, Abnormality of the kidne...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Spasticity, Poor fine motor coor...	ORPHA:261552
Vascular Ehlers-Danlos Syndrome	Hypospadias, Pneumothorax, Cystocele, Renovascular hypertension, Respiratory insufficiency, Bladd...	ORPHA:286
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia...	OMIM:249000
Johanson-Blizzard Syndrome	Hypospadias, Urethrovaginal fistula, Death in childhood, Micropenis, Hydronephrosis	OMIM:243800
Perlman Syndrome	Tall stature	ORPHA:2849
Perlman Syndrome	Nephroblastoma, Nephrogenic rest, Nephroblastomatosis, Renal hamartoma	OMIM:267000
Nephroblastoma	Hematuria, Nephroblastoma	ORPHA:654

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dis3l2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dis3l2.

No publications found that use IMPC mice or data for Dis3l2.

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MGI Allele	Allele Type	Produced
Dis3l2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dis3l2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dis3l2^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dis3l2 MGI:2442555

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

MicroCT E18.5

Human diseases caused by Dis3l2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data